Canonical Allele Identifier: CA346481793
Gene: PCARE HGNC NCBI

Linked Data

COSMIC: COSM1246806
MyVariant Identifiers: chr2:g.29296457A>G (hg19) chr2:g.29073591A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073591A>G , CM000664.2:g.29073591A>G GRCh38
NC_000002.11:g.29296457A>G , CM000664.1:g.29296457A>G GRCh37
NC_000002.10:g.29149961A>G NCBI36
NG_021427.1:g.5671T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.671T>C MANE Select ENSP00000332809.4:p.Leu224Pro
ENST00000331664.5:c.671T>C ENSP00000332809.4:p.Leu224Pro
NM_001029883.2:c.671T>C NP_001025054.1:p.Leu224Pro
XM_011532826.1:c.671T>C XP_011531128.1:p.Leu224Pro
XR_939901.1:n.185+4424A>G
XR_939902.1:n.173+4436A>G
NM_001029883.3:c.671T>C MANE Select NP_001025054.1:p.Leu224Pro
Search 100 bp 5'
Search 100 bp 3'